ABSTRACT
Resumo Objetivo: Determinar a frequência da microftalmia associada à catarata congênita e sua frequência etiológica. Comparar o resultado visual após a cirurgia da catarata congênita em olhos microftálmicos, com o resultado visual obtido em olhos não microftálmicos. Método: Estudo retrospectivo de 76 pacientes portadores de microftalmia e catarata congênita, selecionados após análise de 1050 prontuários dos pacientes atendidos no ambulatório de catarata congênita da UNIFESP. A microftalmia foi determinada pela ecobiometria ultrassonica. Exames oculares e complementares foram feitos para esclarecer a causa etiológica. O resultado visual pós- operatório do Grupo I (com microftalmia) foi confrontado com o resultado visual obtido no Grupo II (sem microftalmia). Resultados: O diâmetro ântero-posterior dos olhos microftálmicos variou de 13 à 21 mm. A frequência etiológica da catarata congênita associada aos olhos microftálmicos foi assim distribuída: doenças infecciosas (55,3%); seguidos de idiopáticas (26,3%), colobomas (7,9%), hereditárias (6,6%), persistência do vítreo primário hiperplásico (2,6%) e associada à síndrome de Lenz (1,3%) .A frequência da microftalmia foi de 7,23 %. 68,3% de olhos afácicos microftálmicos atingiram visão melhor e ou igual à 20/200. Conclusão: A frequência da microftalmia associada à catarata congênita foi de 7,23%. A maior frequência etiológica ocorreu nas doenças infecciosas (55,3%), Embora os olhos microftálmicos tenham tendência para piores resultados visuais quando comparados aos não microftálmicos, nesta pesquisa os olhos microftálmicos afácicos que atingiram visão melhor ou igual a 20/200 foram de 68,3%.
Abstract Objective: To determine the frequency of microphthalmia associated with congenital cataract and its etiological frequency. Compare the result of visual acuity in aphakic microphthalmus eyes, with the visual acuity result obtained in non microphthalmus eyes. Methods: Retrospective study of 76 patients with microphthalmia and congenital cataract, selected after analysis of 1050 medical records of patients seen in congenital cataract clinic of UNIFESP. All patients underwent complete ophthalmologic examination and microphthalmia determined by ultrasound biometry. Investigations were made to clarify the etiological cause. The postoperative visual outcome of Group I (with microphthalmia) was faced with the visual results obtained in Group II (control group without microphthalmia). Results: The anteroposterior diameter of microphthalmus eyes ranged from 13 to 21 mm. The etiological frequency of microphthalmia and congenital cataract was distributed as follows: infectious diseases (55.3%), idiopathic (26.3%), colobomas (7.9%), hereditary (6.6%), persistent hyperplastic vitreous (2.6%) and linked to the Lenz's syndrome (1.3%). The visual acuity in aphakic eyes that reached better view and or equal to 20/200 was 68.3%. Conclusion: The frequency of microphthalmia associated with congenital cataract was 7.23%. The etiological occurred more frequently in infectious disease (55.3%). The aphakics eyes with microphthalmia tend to have worse visual acuity results than the eyes without microphthalmia. If we consider the visual results same and above 20/200 as successful in this search, aphakic eyes with microphthalmia that hit these indices are 68.3%.
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Cataract/congenital , Cataract Extraction/methods , Visual Acuity , Microphthalmos/etiology , Microphthalmos/epidemiology , Aphakia, Postcataract , Microphthalmos/surgery , Retrospective Studies , Follow-Up Studies , Biometry , Treatment Outcome , Axial Length, Eye , Lens, Crystalline/growth & developmentABSTRACT
Congenital heart defects are known to be associated with facial dysmorphism and other congenital anomalies. Oculo-facio-cardio-dental (OFCD) syndrome is one such rare multiple congenital anomaly syndrome inherited as an X-linked dominant condition characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects and dental anomalies. It is unrecognized by many medical and dental professionals. Only 21 cases have been reported so far. This syndrome is often misrecognized as rubella embryopathy because of association of congenital cataract with cardiac anomalies. It is usually the orthodontists who diagnose the syndrome based on typical findings on dental panoramic radiographs. But we suspected our patient to be having OFCD syndrome based on typical facial dysmorphism, ocular and cardiac defects, and finally it was confirmed after noticing typical dental radiographic findings.
Subject(s)
Abnormalities, Multiple/genetics , Adult , Brain/abnormalities , Cataract/congenital , Cataract/epidemiology , Cataract/genetics , Cuspid/abnormalities , Child , Face/abnormalities , Facial Bones/abnormalities , Female , Genetic Diseases, X-Linked/genetics , Heart Defects, Congenital/epidemiology , Heart Defects, Congenital/genetics , Humans , /congenital , Microphthalmos/epidemiology , /genetics , Mothers , Tooth AbnormalitiesABSTRACT
En el servicio de Oftalmología del Complejo Hospitalario `Daniel Alcides Carrión' del Callao, entre los años 1981 y 1983 han sido estudiados 7 casos portadores del síndrome Hallerman-Streiff-Francois. Este síndrome está caracterizado por discefalia con cara de pájaro, anomalías dentales, nanismo proporcionado, hipotricosis, atrofia de piel, microftalmía y catarata congénita bilateral. De ellos, 2 casos asistieron espontáneamente al servicio, 4 proceden del Centro de Educación Especial ` San Francisco de Asís', 1 procedente del centro de Educación Especial `Santa Lucía'. Estos dos últimos centros educativos están dedicados a la enseñanza de niños con ceguera y visión subnormal. En todos ellos se ha practicado examen clínico general y estudio oftalmológico, prestando especial atención a los antecedentes personales y familiares